{
    "disease_id": "DOID:0080424",
    "recommended_name": {
        "id": "DOID:0080424",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080424",
        "name": "developmental and epileptic encephalopathy 44",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080424",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080424",
            "name": "DEE44",
            "description": ""
        },
        {
            "id": "DOID:0080424",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080424",
            "name": "early infantile epileptic encephalopathy 44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "developmental and epileptic encephalopathy, 44",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene."
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "DEE44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "EIEE44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "UBA5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "developmental and epileptic encephalopathy 44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "early infantile epileptic encephalopathy caused by mutation in UBA5",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, 44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, 44; EIEE44",
            "description": ""
        },
        {
            "id": "MONDO:0014933",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "name": "epileptic encephalopathy, early infantile, type 44",
            "description": ""
        },
        {
            "id": "MIM:617132",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617132",
            "name": "Developmental and epileptic encephalopathy 44",
            "description": "Developmental and epileptic encephalopathy 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080424"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080424",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080424",
            "categories": []
        },
        {
            "id": "MONDO:0014933",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014933",
            "categories": []
        },
        {
            "id": "MIM:617132",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617132",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QGC0-1",
            "uniprot_ac": "A0A2R8QGC0",
            "uniprot_id": "A0A2R8QGC0_DANRE",
            "refseq_ac": "NP_001292546",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uba5",
                    "type": "recommended"
                },
                {
                    "name": "cb972",
                    "type": "synonym"
                },
                {
                    "name": "uba5",
                    "type": "synonym"
                },
                {
                    "name": "ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QGC0-1",
            "evidence": [
                {
                    "id": "0080424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VE47-1",
            "uniprot_ac": "Q8VE47",
            "uniprot_id": "UBA5_MOUSE",
            "refseq_ac": "NP_079968",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "5730525G14Rik",
                    "type": "synonym"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "Ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VE47-1",
            "evidence": [
                {
                    "id": "0080424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZZ9-1",
            "uniprot_ac": "Q9GZZ9",
            "uniprot_id": "UBA5_HUMAN",
            "refseq_ac": "NP_001307139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "ThiFP1",
                    "type": "synonym"
                },
                {
                    "name": "UBA5, ubiquitin-activating enzyme E1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBA5",
                    "type": "recommended"
                },
                {
                    "name": "DEE44",
                    "type": "synonym"
                },
                {
                    "name": "EIEE44",
                    "type": "synonym"
                },
                {
                    "name": "SCAR24",
                    "type": "synonym"
                },
                {
                    "name": "THIFP1",
                    "type": "synonym"
                },
                {
                    "name": "UBA5",
                    "type": "synonym"
                },
                {
                    "name": "UBE1DC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZZ9-1",
            "evidence": [
                {
                    "id": "617132",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617132"
                },
                {
                    "id": "0080424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M7A4-1",
            "uniprot_ac": "Q5M7A4",
            "uniprot_id": "UBA5_RAT",
            "refseq_ac": "NP_001009669",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-activating enzyme E1-domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-like modifier-activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "Ube1dc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M7A4-1",
            "evidence": [
                {
                    "id": "0080424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYY3-1",
            "uniprot_ac": "Q9VYY3",
            "uniprot_id": "UBA5_DROME",
            "refseq_ac": "NP_572722",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin-like modifier-activating enzyme 5",
                    "type": "recommended"
                },
                {
                    "name": "CG1749-PA",
                    "type": "synonym"
                },
                {
                    "name": "UFM1-activating enzyme",
                    "type": "synonym"
                },
                {
                    "name": "Uba5 homologue",
                    "type": "synonym"
                },
                {
                    "name": "Uba5-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-like activating enzyme 5",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin activating enzyme 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Uba5",
                    "type": "recommended"
                },
                {
                    "name": "CG1749",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1749",
                    "type": "synonym"
                },
                {
                    "name": "MoeB",
                    "type": "synonym"
                },
                {
                    "name": "Uba5",
                    "type": "synonym"
                },
                {
                    "name": "dMoaD",
                    "type": "synonym"
                },
                {
                    "name": "dUBA5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYY3-1",
            "evidence": [
                {
                    "id": "0080424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080424"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080424"
}